A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5252



Internal ID15550043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33951670..33987603hg38UCSC Ensembl
Outerchr6:33919447..33955380hg19UCSC Ensembl
Outerchr6:34027425..34063358hg18UCSC Ensembl
Outerchr6:34027425..34063358hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3835934
hg1935934
hg1835934
hg1735934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3429
SamplesNA12878
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5252
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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